ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499232771
Gene: ATRX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000480.3:p.Glu416Lys
CA331569057
NM_000489.5:c.1246G>A